Variant report

Variant	rs60959614
Chromosome Location	chr3:42844286-42844287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:42842603-42847269	HepG2	liver:	n/a	n/a
2	ZC3H11A	chr3:42844112-42845469	K562	blood:	n/a	n/a
3	POLR2A	chr3:42841822-42846994	MCF10A-Er-Src	breast:	n/a	n/a
4	RFX5	chr3:42844181-42847194	SK-N-SH	brain:	n/a	chr3:42845776-42845785 chr3:42846020-42846029
5	GATA1	chr3:42844184-42846502	PBDE	blood:	n/a	chr3:42845335-42845345 chr3:42844375-42844384 chr3:42844377-42844384 chr3:42844370-42844391 chr3:42844372-42844388 chr3:42844375-42844384 chr3:42844372-42844388 chr3:42845454-42845464 chr3:42844374-42844386 chr3:42844377-42844384 chr3:42844375-42844385 chr3:42844377-42844384
6	EP300	chr3:42844140-42844415	K562	blood:	n/a	n/a
7	CUX1	chr3:42844113-42845090	K562	blood:	n/a	n/a
8	POLR2A	chr3:42842349-42846343	K562	blood:	n/a	n/a
9	ARID3A	chr3:42843814-42844340	HepG2	liver:	n/a	n/a
10	GATA3	chr3:42844134-42844734	SH-SY5Y	brain:	n/a	chr3:42844375-42844384 chr3:42844377-42844384 chr3:42844370-42844391 chr3:42844372-42844388 chr3:42844375-42844384 chr3:42844372-42844388 chr3:42844374-42844386 chr3:42844377-42844384 chr3:42844375-42844385 chr3:42844377-42844384
11	TAL1	chr3:42844138-42846406	K562	blood:	n/a	n/a
12	POLR2A	chr3:42844156-42847316	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:42843570-42846867	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:42841845..42845236-chr3:42855285..42858253,3	K562	blood:
2	chr3:42843855..42845411-chr3:42851834..42853689,2	K562	blood:
3	chr3:42843293..42845569-chr3:44276181..44278757,2	K562	blood:
4	chr3:42747563..42749919-chr3:42844077..42845877,2	K562	blood:
5	chr3:42843552..42845487-chr3:42920948..42923647,2	K562	blood:
6	chr3:42841907..42845904-chr3:42858547..42863038,5	K562	blood:
7	chr3:42542919..42545079-chr3:42843283..42845875,2	K562	blood:
8	chr3:42631172..42633792-chr3:42841692..42844503,2	K562	blood:
9	chr3:42820881..42822515-chr3:42843907..42845636,2	K562	blood:
10	chr3:42842350..42845554-chr3:42847131..42848922,4	K562	blood:

Variant related genes	Relation type
ACKR2	TF binding region
ENSG00000114812	Chromatin interaction
ENSG00000008324	Chromatin interaction
ENSG00000144648	Chromatin interaction

rs_ID	r²[population]
rs11129973	0.85[AMR][1000 genomes]
rs11708224	0.85[AMR][1000 genomes]
rs11720829	0.85[AMR][1000 genomes]
rs12488173	0.85[AMR][1000 genomes]
rs1564176	0.85[AMR][1000 genomes]
rs1564177	0.85[AMR][1000 genomes]
rs339663	0.85[AMR][1000 genomes]
rs339669	0.85[AMR][1000 genomes]
rs339673	0.85[AMR][1000 genomes]
rs339675	0.85[AMR][1000 genomes]
rs339679	0.85[AMR][1000 genomes]
rs35426298	0.85[AMR][1000 genomes]
rs4399859	0.85[AMR][1000 genomes]
rs4404423	0.85[AMR][1000 genomes]
rs4682855	0.85[AMR][1000 genomes]
rs4683331	0.85[AMR][1000 genomes]
rs5027058	0.85[AMR][1000 genomes]
rs6442065	0.85[AMR][1000 genomes]
rs6773636	0.85[AMR][1000 genomes]
rs6787667	0.85[AMR][1000 genomes]
rs7610350	0.85[AMR][1000 genomes]
rs7611520	0.85[AMR][1000 genomes]
rs7612614	0.85[AMR][1000 genomes]
rs7612782	0.85[AMR][1000 genomes]
rs7614158	0.85[AMR][1000 genomes]
rs7648688	0.85[AMR][1000 genomes]
rs9755640	0.85[AMR][1000 genomes]
rs9862147	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9866005	0.85[AMR][1000 genomes]
rs9882356	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42827600-42844600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:42835400-42844400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:42835400-42844600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:42835400-42844600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:42835400-42844600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:42835400-42844600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:42835400-42844600	Weak transcription	Esophagus	oesophagus
8	chr3:42835400-42844600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:42835400-42844600	Weak transcription	Lung	lung
10	chr3:42835400-42844600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:42835400-42844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:42835400-42844800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:42835400-42844800	Weak transcription	Ovary	ovary
14	chr3:42835800-42844600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr3:42837000-42844600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:42838200-42844600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:42838200-42844600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:42841000-42844600	Enhancers	Colon Smooth Muscle	Colon
19	chr3:42841200-42844600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:42841200-42844600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:42841400-42844600	Enhancers	Primary T cells from cord blood	blood
22	chr3:42841400-42844600	Weak transcription	Fetal Muscle Leg	muscle
23	chr3:42841600-42844400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr3:42841600-42844800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:42841800-42844600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:42841800-42844600	Weak transcription	Gastric	stomach
27	chr3:42841800-42844600	Weak transcription	Pancreas	Pancrea
28	chr3:42841800-42844600	Weak transcription	Spleen	Spleen
29	chr3:42842000-42844800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:42842000-42844800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:42842200-42844400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:42842200-42844800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:42842400-42844400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:42842600-42844400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr3:42842600-42844600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:42842600-42844600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:42842800-42844600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:42842800-42844600	Weak transcription	Fetal Thymus	thymus
39	chr3:42842800-42844600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:42842800-42844800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr3:42843000-42844400	Weak transcription	Psoas Muscle	Psoas
42	chr3:42843200-42844400	Flanking Active TSS	HepG2	liver
43	chr3:42843400-42844600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:42843400-42844600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:42843400-42844600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:42843400-42844600	Active TSS	Colonic Mucosa	Colon
47	chr3:42843400-42844600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr3:42843400-42844800	Flanking Active TSS	Fetal Heart	heart
49	chr3:42843400-42845200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr3:42843400-42845400	Flanking Active TSS	Liver	Liver

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